Canonical Allele Identifier: CA519498470
Gene: AMELY HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.6740611T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6872570T>C , CM000686.2:g.6872570T>C GRCh38
NC_000024.9:g.6740611T>C , CM000686.1:g.6740611T>C GRCh37
NC_000024.8:g.6800611T>C NCBI36
NG_008011.1:g.6458A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.39A>G MANE Select ENSP00000498344.1:p.Ala13=
ENST00000215479.10:c.39A>G ENSP00000215479.5:p.Ala13=
ENST00000651267.1:c.39A>G ENSP00000498344.1:p.Ala13=
ENST00000215479.9:c.39A>G ENSP00000215479.5:p.Ala13=
ENST00000383036.1:c.39A>G ENSP00000372505.1:p.Ala13=
NM_001143.1:c.39A>G NP_001134.1:p.Ala13=
XM_011531472.1:c.39A>G XP_011529774.1:p.Ala13=
NM_001364814.1:c.39A>G NP_001351743.1:p.Ala13=
NM_001143.2:c.39A>G MANE Select NP_001134.1:p.Ala13=